title: Acute eosinophilic pneumonia occurring in a dedicator of cytokinesis 8 (DOCK8) deficient patient.
abstract: Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive type of combined immunodeficiency with elevated IgE. In this report, we describe a Japanese girl of non-consanguineous family suffering from acute eosinophilic pneumonia (AEP) as a presenting feature of DOCK8 deficiency. Although AEP was self-limiting, consecutively experienced recurrent respiratory infections, severe atopic dermatitis, and vulnerability to viral infections, prompted us to evaluate the possibility of DOCK8 deficiency. Immunological assessments demonstrated decreased IgM, increased IgE, T lymphocytepenia, especially in CD4 T cells, decreased PHA blastogenesis, and decreased CD27(+) CD19(+) memory B cells. Western blotting revealed the absence of DOCK8 protein. Investigation of genomic DNA by multiplex ligation-dependent probe amplification (MLPA) revealed a heterozygous large deletion of 77 kb spanning from intron 5 to exon 22. DOCK8 cDNA sequencing revealed a nonsense mutation at position 740 (E740X). As far as we know, this is the first Japanese case of DOCK8 deficiency.
authors.affiliation: Department of Pediatrics, Fujita Health University, Toyoake, Aichi, Japan.
authors.forename: Ikuya
authors.initials: I
authors.lastname: Tsuge
authors.forename: Komei
authors.initials: K
authors.lastname: Ito
authors.forename: Tamae
authors.initials: T
authors.lastname: Ohye
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Kando
authors.forename: Yasuto
authors.initials: Y
authors.lastname: Kondo
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Nakajima
authors.forename: Chisato
authors.initials: C
authors.lastname: Inuo
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kurahashi
authors.forename: Atsuo
authors.initials: A
authors.lastname: Urisu
mesh_terms: D001483:Base Sequence; D002177:Candidiasis / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology; D008172:Lung Diseases, Fungal / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D045828:Moraxellaceae Infections / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D010033:Otitis Media / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D018410:Pneumonia, Bacterial / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D011018:Pneumonia, Pneumococcal / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D011657:Pulmonary Eosinophilia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D011859:Radiography; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics*; D012852:Sinusitis / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D013203:Staphylococcal Infections / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D013290:Streptococcal Infections / Q000150:complications / Q000175:diagnosis / Q000235:genetics
chemical_list: C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors
keywords: atopic dermatitis; food allergy; hyper IgE syndrome; lymphocytepenia; pulmonary infiltrate